Albinism and precautions to minimise complications
Dr Neo Sekgoma | Tuesday June 14, 2022 06:00
Oculocutaneous Albinism (OCA) best known as Albinism is a genetic condition that affects the production of melanin pigment resulting in partial or complete absence of melanin, a pigment that is necessary for the colour of the skin, the hair and eyes.
This genetic condition runs in families and there are particular genes involved which are inherited from the mother and father of the individual, however it can occur spontaneously in some cases.
There are many different types of Albinism and depending on the inherited genetic mechanisms involved individuals present with different degrees of severity of the condition. People of African descent (Black people) are affected more than other population groups.
Affected individuals present with: Patients with albinism present at birth with fair milky white skin that is highly susceptible to the harmful effects of the sun, white to yellow colour hair and variations in eye colour which range from light blue, grey and even brown. The skin may present with multiple sun spots (solar lentigo) on the sun exposed areas, moles that may appear pigmented or without pigment, formation of skin cancers specifically basal cell carcinomas and squamous cell carcinomas and are highly susceptible to multiple sun burns with minimal sun exposure. The hair is equally affected the colour of which can range from white to yellow and even reddish or brown colours may be seen in affected. With regards to the eyes, eyelashes and eyebrows tend to have the same variations in colour as the scalp hair. Eye colour is variable and includes a light blue, grey and even brown of the iris. This alteration or rather lack of pigmentation in the iris makes the eyes susceptible to damage caused by light and the sun. Individuals have visual impairments which include nystagmus which is the rapid involuntary movement of the eyes, near-sightedness, sensitivity to light, reduced vision, squints (strabismus) and legal blindness may also occur. The quality of life of those affected may be diminished due to social constructs that lead to discrimination, bullying and social isolation. And it is highly important for there to be more advocacy for people living with albinism.
What treatments and precautions can be taken to minimise complications? Skin care 1. All patients are advised to wear broad spectrum sunscreen. This means Sunscreen with a sun protective factor of 30 and above and protects against ultraviolet rays of the sun (UVA and UVB). Sunscreens with physical blockers such as titanium dioxide and zinc oxide may be ideal. Re application of sunscreen every two hours is also advised. 2. Practising sun protective measures.
The use of long sleeved clothing (long sleeves and pants, shirts with collars, tightly woven fabrics that don't let light through, scarfs to cover the neck), the use of broad brim hats and umbrellas to help block the sun’s rays 3. Avoidance of direct sunlight between 11am and 4pm when sun rays are at the strongest intensity 4. Regular Self-examinations to check for formation of new skin lesions, changes in existing skin lesions which include bleeding, ulcer formation or colour changes 5. All patients are advised to see a Dermatologist (specialist skin doctor) from birth and at least have two appointments for a full body examination. These examinations allow for early detection of pre-cancerous and cancerous skin lesion Eye care 1. An eye examination by an ophthalmologist (Eye specialist Doctor) at least once a year. Eye care which included spectacles that aid with visual impairments, prescription sunglasses which specific UV protection to prevent the adverse effects of the sun on the eyes.
Advocacy The 2022 International Albinism Awareness Theme is ‘United in making our voice heard’. This highlights that in society there should be more inclusivity for people living with albinism, advocacy and “to amplify the voices and visibility of persons with albinism in all areas of life’’. The Goal is to eradicate discrimination and stigma against people living with Albinism in the world and in Botswana. We can achieve this my educating the public, equipping health care workers with the necessary tools and skills to identify skin changes, supporting advocacy groups like the Albinism Society of Botswana and other groups for people living with albinism.